hrp0092p1-164 | Adrenals and HPA Axis (1) | ESPE2019

The Urinary Steroid Signature of Premature Adrenarche

Janner Marco , Sommer Grit , Groessl Michael , Flück Christa

Background: Adrenarche describes the developmental event of the human adrenal cortex when the zona reticularis increases the synthesis of C19 steroids (DHEA/-S) markedly at around 6-8 years of age. Early appearance of this event is called premature adrenarche (PA) and has been associated with adverse outcomes including polycystic ovary syndrome and metabolic syndrome. Recently novel biosynthetic pathways of androgen production have been revealed, but their rol...

hrp0095t18 | Section | ESPE2022

SF1next study: spectrum of SF-1/NR5A1 gene variants in this large international cohort

Sommer Grit , Tack Lloyd , Cools Martine , Flück Christa , Study Group SF1next

Background: Loss-of-function variants in the NR5A1 gene are frequent causes of 46,XY differences of sex development (DSD). To date, the Human Gene Mutation Database contains 291 NR5A1 variants, most of which are missense (69%). Mouse models demonstrated the effect of loss of SF-1 on sex development, but the interactome of SF-1 is huge and an explanation for the broad phenotype is still missing. Controversies exist as: a) in vitro transactivation assays of NR5A...

hrp0092p1-309 | Diabetes and Insulin (2) | ESPE2019

Level of Glycemic Control in Pediatric Patients with Type 1 Diabetes in Bern: A Cross-Sectional Study

Ch. Zingg Tanja , Dennig Michelle , Sommer Grit , Flück Christa E.

Background: Good glycemic control prevents long-term complications of microvascular and macrovascular diseases in type 1 diabetes (T1DM).We aimed to investigate whether our patients had A1c values <7.5% as recommended by ISPAD and how therapy modality, duration of diabetes and pubertal status affected the metabolic control of our patients. We also set out to compare our quality of care with our results of 2008 and with other publ...

hrp0097p1-372 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Incidence of differences of sex development in Switzerland 2000-2019

Metzger Sara , Sommer Grit , Flück Christa , DSD Cohort Study Group Swiss

Background: Differences in sex development (DSD) comprise a large group of rare, mostly genetic disorders along the path of human sexual development. Since the Chicago Consensus, health care providers group them in sex chromosome DSD, 46,XY and 46,XX DSD with subgroups regarding their effect on sex hormone synthesis, action or excess, on gonadal development, and others. Incidence of rare DSD is not well established despite public interest.<p class="abstext...

hrp0097p1-565 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Insights into pubertal development among individuals with NR5A1/SF-1 variants: Results from the international SF1next study

Kouri Chrysanthi , Sommer Grit , Martinez de LaPiscina Idoia , E. Flück Christa

Background: NR5A1/SF-1 variants result in a wide range of phenotypes including DSD, male infertility, and primary ovarian insufficiency (POI). Little is known of how NR5A1/SF-1 variants affect puberty in individuals with or without DSD. This study aimed to assess the impact of NR5A1/SF-1 variants on pubertal development and investigate whether abnormal puberty is linked to the severity of DSD in an international cohort with NR5A1...

hrp0095fc6.5 | Sex Development and Gonads | ESPE2022

Phenotypes in a large international cohort of individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Martinez de Lapiscina Idoia , Tack Lloyd , Cools Martine , E Flück Christa , study group SF1next

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...

hrp0094p1-103 | Adrenal B | ESPE2021

Leukocyte telomere length in children with Congenital Adrenal Hyperplasia

Raftopoulou Christina , Abawi Ozair , Sommer Grit , Binou Maria , Paltoglou George , Fluck Christa , Akker Erica van den , Charmandari Evangelia ,

Introduction: Exposure to chronic stress and hypercortisolism is associated with decreased leukocyte telomere length (LTL), a marker for accelerated biological aging and cardiovascular disease. Children with congenital adrenal hyperplasia (CAH) are treated with glucocorticoids. The aim of our study was to investigate LTL in children with CAH and its relation with CAH subtype, daily glucocorticoid dose and treatment quality.Method...

hrp0094p2-2 | Adrenals and HPA Axis | ESPE2021

How do urine steroid metabolites of spot samples correlate with 24 hour urine specimens in children with congenital adrenal hyperplasia?

Sommer Grit , Abawi Ozair , Groessl Michael , Halbsguth Ulrike , Charmandari Evangelia , Akker Erika L.T. van den , Fluck Christa E. ,

Introduction: Steroid profiling in children with congenital adrenal hyperplasia (CAH) is used to monitor the balance between androgen and cortisol metabolites and to decide on the optimal glucocorticoid dosage. Twenty-four hour collection is the gold standard for measurement of steroid metabolites in urine, because steroid production follows a circadian rhythm and is influenced by short-term stress and steroid drugs. For some children, e.g. those who were diap...

hrp0089p2-p346 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Current Medical Care of Children and Adolescents with Disorders/differences of Sex Development in Switzerland

Sommer Grit , Konrad Daniel , Kuhlmann Beatrice , l'Allemand Dagmar , Phan-Hug Franziska , Hauschild Michael , Schwitzgebel Valerie , Tonella Paolo , Hess Melanie , Zumsteg Urs , Lauber-Biason Anna , Flueck Christa E.

Introduction: Since 2000 understanding of biology of sex development increased tremendously thanks to genetic research. This lead to new classification for persons with disorders/differences of sex development (DSD) based on genetics, and guidelines from the UK recommend revising medical care for persons with DSD by setting up interdisciplinary DSD teams. In Switzerland, persons with DSD asked for better care, stimulating the Swiss National Ethics Commission in 2012 to recomme...

hrp0094p1-43 | Sex Endocrinology and Gonads A | ESPE2021

Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Ahmed Faisal , Balsamo Antonio , Baronio Federico , Bryce Jillian , Camats Nuria , Cetinkaya Semra , van der Grinten Hedi L Claahsen , Cools Martine , Darendeliler Fatma Feyza , Davies Justin H , Fabbri-Scallet Helena , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Hannema Sabine , Hiort Olaf , Janner Marco , Kalinchenko Natalia , Lachlan Katherine , Kolesinska Zofia , l’Allemand Dagmar , Lang-Muritano Mariarosaria , Lucas-Herald Angela , Martin Idoia Martinez de Lapiscina , Mazen Inas , Moenig Isabel , Muhrer Julia , Niedziela Marek , Nordenstrom Anna , Orman Burce , Poyrazoglu Sukran , Tack Lloyd , Tadokoro-Cuccaro Rieko , Wasniewska Malgorzata , Yavas Zehra , Zelinska Nataliya , Fluck Christa E ,

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...